Pathophysiology
Cortisol is the body’s stress hormone that is produced by the adrenal glands in response to stressful situations. A complicated chemical pathway is needed to synthesize that hormone that starts with stimulation of the adrenal gland by adrenocorticotropic hormone (ACTH). In Congenital Adrenal Hyperplasia (CAH), a key enzyme is missing from the body. The absence of this hormone prevents proper synthesis of aldosterone and cortisol. Production of androgens are altered as well, leading to increased masculinization in female patients. In the classical form of CAH, salt balance can be drastically altered, leading to electrolyte imbalances, dehydration and cardiac rhythm changes.While many patients are diagnosed shortly after birth, there is a type of this disease which develops later in life, usually in adolescence or early adulthood. These patients are missing only some of the enzymes necessary for cortisol production, so this form of the disease is less severe then the congenital form. Aldosterone production is not affected. Congential adrenal hyperplasia is transmitted genetically, with Mediterraneans, Hispanics, Yugoslavs, and Eastern European Jews all having an increased risk of having this disease as compared to the general population.
Symptoms
Some of the most common complaints in women diagnosed with CAH include:- hirsutism
- infertility
- irregular menses
- acne
Diagnosis
Due to the genetic transmission, many patients are aware of the risk in their family and let their doctor know of the need for genetic screening. The doctor may run urine and blood tests to look for abnormal cortisol levels, or other hormonal levels. Increased androgen (specifically DHEAS) levels may also be considered when making a diagnosis. A thorough history and physical exam is also necessary for the doctor to make a complete diagnosis.Treatment
Birth control pills are usually effective in regulating the menstrual cycle, decreasing acne and sometimes abnormal hair loss. If this is not effective in dealing with symptoms, or the doctor feels that birth control pills are not appropriate for you, s/he may consider low dose steroid treatment. However, treatment is not typically lifelong. The specific drug and regimen is usually up to the discretion of the treating physician and is dependent on the severity of symptoms.Source:
Migeon, Claude J. and Wisniewski, Amy B. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A guide for patients and their families. Johns Hopkins Hospital, Department of Pediatrics and Department of Endocrinology. Prepared 22 May 01. Accessed 26 January 08. Http://www.hopkinschildrens.org/specialties/categorypages/cah/index.html.
